Anatomy · Embryology and Genetics

Numerical and structural chromosomal abnormalities

4 min read

  • Chromosomal abnormalities: disorders due to a change in chromosome number (numerical) or chromosome structure (structural).

Numerical Chromosomal Abnormalities (Autosomal Trisomies)

  • Three autosomal trisomies: Down syndrome (trisomy 21), Patau syndrome (trisomy 13), Edward syndrome (trisomy 18); each has an extra copy of the named autosome.
  • Down syndrome karyotype:
    • nondisjunction during meiosis gives 47 chromosomes (triplo-21, the common nonfamilial type);
    • rarely, translocation of chromosome 21 onto another autosome gives 46 chromosomes (familial type).

Trisomy 13 (Patau syndrome) and trisomy 18 (Edward syndrome), clinical features